The secret weapon for detecting fetal gender: How magical is cffDNA?

With the advancement of technology, it is becoming easier for pregnant women to know the gender of their fetus during pregnancy. Among them, cell-free fetal DNA (cffDNA) has become a new method for non-invasive testing of pregnant women. This technology can not only detect the gender of the fetus, but also diagnose various health conditions of the fetus early, and has attracted more and more attention.

cffDNA refers to fetal DNA that circulates freely in the mother's blood.

cffDNA comes from the trophoblast cells of the placenta. When the placental microparticles are released into the maternal blood circulation, the fetal DNA exists in the form of fragments. These fragments are approximately 200 base pairs in length, significantly smaller than maternal DNA fragments and can therefore be distinguished during testing. Studies show that approximately 11% to 13.4% of maternal free DNA comes from the fetus, and this figure varies from pregnant woman to pregnant woman.

cffDNA detection process

At about ten weeks of pregnancy, your doctor will collect a sample from your peripheral blood. The plasma is then separated from the cells using a centrifuge, and the cffDNA is extracted and purified. Studies have shown that the yield of extracted cffDNA can be effectively increased by using a specific extraction kit. For example, the addition of formaldehyde can effectively stabilize cells, reduce the release of maternal DNA, and ultimately improve the purity of cffDNA.

cffDNA analysis technology

There are currently a variety of laboratory methods for analyzing cffDNA, including but not limited to:

  • Massively Parallel Sequencing (MPSS)
  • Precise Parallel Sequencing (t-MPS)
  • Single nucleotide polymorphism (SNP) based detection technology

These advanced technologies can not only be used to confirm the sex of the fetus, but can also be used to detect various genetic diseases and abnormalities.

cffDNA analysis is not limited to determining the sex of the fetus, but can also detect structural or genetic diseases of the fetus in advance.

Application Scope

cffDNA analysis has a wide range of applications, including but not limited to:

1. Identification of fetal sex

Using cffDNA to detect fetal gender can effectively screen for gender-related genetic diseases. For example, if a pregnant woman is a carrier of an X-linked recessive disease, the analysis results can help predict the health risks to the fetus.

2. Congenital diseases

Through cffDNA analysis, doctors can detect the risk of some congenital diseases early and provide appropriate medical advice and treatment plans for high-risk fetuses.

3. Paternity testing during pregnancy

cffDNA's technology can also be used to test the paternity of a fetus, which can be performed by pregnant women after nine weeks of pregnancy.

4. Screening for single gene diseases

cffDNA can also help screen for autologous dominant and recessive single gene diseases. In some cases, cffDNA can effectively identify health problems caused by specific gene mutations.

Future Outlook

With the development of next-generation sequencing technology, the application of cffDNA may be further expanded. In the future, this technology is expected to be able to not only detect the gender and health status of the fetus, but also gain an in-depth understanding of the fetus's genetic background. This will not only facilitate medical diagnosis, but also trigger ethical and moral thinking.

Will this technology change the way pregnancies are conceived in the future?

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